长岛型掌跖角化症发病机制及治疗研究进展  

Advances in the Pathogenesis and Treatment of Nagashima-type Palmoplantar Keratosis

作　　者：黄昕 陈志明 宋忠亚 向睿宇 杨勇 HUANG Xin;CHEN Zhiming;SONG Zhongya;XIANG Ruiyu;YANG Yong(Genetic Skin Disease Center,Institute of Dermatology,Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042,China;Department of Dermatology,Peking University First Hospital^Beijing 100034,China)

机构地区：[1]中国医学科学院皮肤病医院(研究所)遗传病中心,江苏南京210042 [2]北京大学第一医院皮肤科,北京100034

出　　处：《皮肤科学通报》2020年第1期5-9,共5页Dermatology Bulletin

摘　　要：长岛型掌跖角化症(NPPK),属于弥漫性非表皮松解性掌跖角化症,是一种常染色体隐性遗传病,是中国汉族人群最常见的掌跖角化症类型,估计患病率为3.1/10000。NPPK的致病基因已明确为SERPINB7,但其发病机制尚不清楚,目前也无特别有效的治疗方法。本文就近年来NPPK发病机制和临床治疗的相关研究进展作一综述。Nagashima-type palmoplantar keratosis( NPPK) is an autosomal recessive form of diffuse nonepidermolytic palmoplantar keratosis caused by mutations in SERPINB7.It is the most common type of palmoplantar keratosis in China,but its pathogenesis remains undefined. There is no very effective therapy. The paper reviewed the advances of the pathogenesis and treatment of NPPK.

关 键 词：长岛型掌跖角化症 SERPINB7基因 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]